TY  - CHAP
M1  - Book, Section
TI  - Sickle Cell Anemia
A1  - Alsultan, Abdulrahman
A1  - Steinberg, Martin H.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
PY  - 2014
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Sickle  cell  anemia  (HbSS)  is  caused  by  homozygosity  for  a  point  mutation  in  the  β-globin  gene  (HBB)  that  leads  to  replacement  of  glutamic  acid  by  valine  at  position  six  of  the  β-globin  chain  of  hemoglobin  (β6  Glu>Val)  leading  to  the  synthesis  of  abnormal  β-globin  chains.  The  HbS  β-globin  chain  pairs  with  normal  a-globin  chains  to  produce  sickle  hemoglobin  or  HbS  (a2βS2).Clinical  presentation  of  HbSS  is  heterogeneous  among  patients  even  though  all  cases  have  the  identical  HbS  mutation  suggesting  modification  of  the  disease  phenotype  by  other  genes  and  the  environment.Complications  can  be  related  to  sickle  vaso-occlusion,  for  example,  acute  painful  episodes,  osteonecrosis,  and  acute  chest  syndrome  and  also  be  associated  with  the  degree  of  hemolysis,  for  example,  gallbladder  disease,  stroke,  priapism,  leg  ulcers,  and  pulmonary  hypertension.The  major  treatment  modalities  include  blood  transfusion  for  severe  anemia,  stem  cell  transplantation  for  selected  cases  and  administration  of  hydroxyurea  (hydroxycarbamide)  to  stimulate  the  production  of  fetal  hemoglobin  (HbF)  that  by  virtue  of  its  effects  on  HbS  polymerization,  can  decrease  most  complications  of  disease  and  extend  lifespan.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1102699783
ER  -